Variant report

Variant	nsv870513
Chromosome Location	chr1:56407227-56493106
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:56491784-56491973	HepG2	liver:	n/a	n/a
2	BATF	chr1:56424651-56425056	GM12878	blood:	n/a	chr1:56424847-56424857 chr1:56424846-56424857
3	BRCA1	chr1:56424139-56424298	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr1:56446274-56446532	H1-hESC	embryonic stem cell:	n/a	chr1:56446384-56446395 chr1:56446385-56446394 chr1:56446383-56446394 chr1:56446385-56446394 chr1:56446385-56446394 chr1:56446385-56446394
5	CEBPB	chr1:56443767-56443972	A549	lung:	n/a	chr1:56443853-56443870 chr1:56443856-56443865 chr1:56443854-56443865 chr1:56443855-56443866 chr1:56443854-56443867
6	CEBPB	chr1:56443712-56443994	IMR90	lung:	n/a	chr1:56443853-56443870 chr1:56443856-56443865 chr1:56443854-56443865 chr1:56443855-56443866 chr1:56443854-56443867
7	CEBPB	chr1:56440374-56441127	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr1:56455834-56456091	Hela-S3	cervix:	n/a	chr1:56455874-56455887
9	CEBPB	chr1:56446159-56447017	Hela-S3	cervix:	n/a	chr1:56446384-56446395 chr1:56446385-56446394 chr1:56446383-56446394 chr1:56446385-56446394 chr1:56446385-56446394 chr1:56446385-56446394
10	CEBPB	chr1:56413125-56413530	Hela-S3	cervix:	n/a	chr1:56413334-56413345
11	CEBPB	chr1:56451785-56451916	Hela-S3	cervix:	n/a	chr1:56451841-56451852
12	CEBPB	chr1:56443739-56443985	HepG2	liver:	n/a	chr1:56443853-56443870 chr1:56443856-56443865 chr1:56443854-56443865 chr1:56443855-56443866 chr1:56443854-56443867
13	CEBPB	chr1:56446222-56446575	HepG2	liver:	n/a	chr1:56446384-56446395 chr1:56446385-56446394 chr1:56446383-56446394 chr1:56446385-56446394 chr1:56446385-56446394 chr1:56446385-56446394
14	CEBPB	chr1:56467013-56467020	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr1:56446227-56446553	K562	blood:	n/a	chr1:56446384-56446395 chr1:56446385-56446394 chr1:56446383-56446394 chr1:56446385-56446394 chr1:56446385-56446394 chr1:56446385-56446394
16	CEBPB	chr1:56451775-56451892	HepG2	liver:	n/a	chr1:56451841-56451852
17	CEBPB	chr1:56446198-56446579	A549	lung:	n/a	chr1:56446384-56446395 chr1:56446385-56446394 chr1:56446383-56446394 chr1:56446385-56446394 chr1:56446385-56446394 chr1:56446385-56446394
18	CEBPB	chr1:56451713-56451979	IMR90	lung:	n/a	chr1:56451841-56451852
19	CEBPB	chr1:56446202-56446961	IMR90	lung:	n/a	chr1:56446384-56446395 chr1:56446385-56446394 chr1:56446383-56446394 chr1:56446385-56446394 chr1:56446385-56446394 chr1:56446385-56446394
20	CEBPB	chr1:56446156-56446498	A549	lung:	n/a	chr1:56446384-56446395 chr1:56446385-56446394 chr1:56446383-56446394 chr1:56446385-56446394 chr1:56446385-56446394 chr1:56446385-56446394
21	CEBPB	chr1:56466885-56467138	IMR90	lung:	n/a	n/a
22	CEBPB	chr1:56454478-56454728	HepG2	liver:	n/a	chr1:56454606-56454617 chr1:56454605-56454616 chr1:56454605-56454618 chr1:56454605-56454618 chr1:56454607-56454616 chr1:56454605-56454618
23	CEBPB	chr1:56454445-56454758	IMR90	lung:	n/a	chr1:56454606-56454617 chr1:56454605-56454616 chr1:56454605-56454618 chr1:56454605-56454618 chr1:56454607-56454616 chr1:56454605-56454618
24	CEBPB	chr1:56440407-56441119	IMR90	lung:	n/a	n/a
25	CEBPB	chr1:56413288-56413390	HepG2	liver:	n/a	chr1:56413334-56413345
26	CEBPB	chr1:56443726-56443982	Hela-S3	cervix:	n/a	chr1:56443853-56443870 chr1:56443856-56443865 chr1:56443854-56443865 chr1:56443855-56443866 chr1:56443854-56443867
27	CEBPB	chr1:56423829-56424028	HepG2	liver:	n/a	chr1:56423905-56423916
28	CTCF	chr1:56441125-56441231	Gliobla	brain:	n/a	chr1:56441200-56441218
29	CTCF	chr1:56417200-56417350	GM12801	blood:	n/a	n/a
30	CTCF	chr1:56463460-56463610	NHDF-neo	bronchial:	n/a	n/a
31	CTCF	chr1:56463420-56463570	AG10803	skin:	n/a	n/a
32	CTCF	chr1:56440280-56440430	AG10803	skin:	n/a	n/a
33	CTCF	chr1:56453447-56453468	Lung_OC	lung:	n/a	n/a
34	CTCF	chr1:56441130-56441214	Fibrobl	skin:	n/a	n/a
35	CTCF	chr1:56441180-56441330	AG10803	skin:	n/a	chr1:56441200-56441218
36	CTCF	chr1:56441160-56441310	HAc	cerebellar:	n/a	chr1:56441200-56441218
37	CTCF	chr1:56446840-56446990	BJ	skin:	n/a	n/a
38	CTCF	chr1:56441340-56441490	AG10803	skin:	n/a	n/a
39	CTCF	chr1:56441169-56441215	ProgFib	skin:	n/a	n/a
40	CTCF	chr1:56441060-56441210	AG10803	skin:	n/a	n/a
41	CTCF	chr1:56446760-56446910	AG10803	skin:	n/a	n/a
42	E2F4	chr1:56421014-56421214	MCF10A-Er-Src	breast:	n/a	n/a
43	E2F4	chr1:56414714-56414993	MCF10A-Er-Src	breast:	n/a	n/a
44	E2F4	chr1:56408920-56409141	MCF10A-Er-Src	breast:	n/a	n/a
45	E2F4	chr1:56447293-56447560	MCF10A-Er-Src	breast:	n/a	n/a
46	E2F4	chr1:56413901-56413919	MCF10A-Er-Src	breast:	n/a	n/a
47	EBF1	chr1:56424854-56425180	GM12878	blood:	n/a	chr1:56425056-56425065
48	EBF1	chr1:56424880-56425218	GM12878	blood:	n/a	chr1:56425056-56425065
49	EBF1	chr1:56424760-56425222	GM12878	blood:	n/a	chr1:56425056-56425065
50	ELK1	chr1:56427673-56427677	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:56453730-56453780	AG09319	gingival:	n/a
2	chr1:56454285-56454335	PANC-1	pancreas:	n/a
3	chr1:56424393-56424443	Jurkat	blood:	n/a
4	chr1:56424393-56424443	HCF	heart:	n/a
5	chr1:56454285-56454335	HL-60	blood:	n/a
6	chr1:56454285-56454335	GM06990	blood:	n/a
7	chr1:56453730-56453780	GM12892	blood:	n/a
8	chr1:56424393-56424443	MCF10A-Er-Src	breast:	n/a
9	chr1:56463319-56463369	HRE	kidney:	n/a
10	chr1:56466160-56466210	HNPCEpiC	eye:	n/a
11	chr1:56453730-56453780	SAEC	small airway:	n/a
12	chr1:56463319-56463369	SK-N-SH_RA	brain:	n/a
13	chr1:56466160-56466210	K562	blood:	n/a
14	chr1:56466160-56466210	HRE	kidney:	n/a
15	chr1:56424393-56424443	NHBE	bronchial:	n/a
16	chr1:56454285-56454335	SK-N-SH	brain:	n/a
17	chr1:56466160-56466210	CMK	blood:	n/a
18	chr1:56454285-56454335	NHBE	bronchial:	n/a
19	chr1:56463319-56463369	BJ	skin:	n/a
20	chr1:56463319-56463369	HNPCEpiC	eye:	n/a
21	chr1:56463319-56463369	H1-hESC	embryonic stem cell:	embryo
22	chr1:56453730-56453780	HPAEpiC	pulmonary alveolar:	n/a
23	chr1:56424393-56424443	T-47D	breast:	n/a
24	chr1:56463319-56463369	GM12891	blood:	n/a
25	chr1:56454285-56454335	Jurkat	blood:	n/a
26	chr1:56424393-56424443	HRPEpiC	eye:	n/a
27	chr1:56424393-56424443	ovcar-3	ovarian:	n/a
28	chr1:56466160-56466210	SKMC	muscle:	n/a
29	chr1:56463319-56463369	T-47D	breast:	n/a
30	chr1:56466160-56466210	HCM	heart:	n/a
31	chr1:56466160-56466210	GM06990	blood:	n/a
32	chr1:56463319-56463369	HepG2	liver:	n/a
33	chr1:56454285-56454335	NH-A	brain:	n/a
34	chr1:56453730-56453780	HRPEpiC	eye:	n/a
35	chr1:56453730-56453780	PFSK-1	brain:	n/a
36	chr1:56454285-56454335	GM19239	blood:	n/a
37	chr1:56454285-56454335	RPTEC	kidney:	n/a
38	chr1:56424393-56424443	HCPEpiC	choroid plexus:	n/a
39	chr1:56466160-56466210	LNCaP	prostate:	n/a
40	chr1:56424393-56424443	AG09309	skin:	n/a
41	chr1:56463319-56463369	Jurkat	blood:	n/a
42	chr1:56463319-56463369	CMK	blood:	n/a
43	chr1:56424393-56424443	HepG2	liver:	n/a
44	chr1:56453730-56453780	HMEC	breast:	n/a
45	chr1:56453730-56453780	H1-hESC	embryonic stem cell:	embryo
46	chr1:56454285-56454335	SKMC	muscle:	n/a
47	chr1:56463319-56463369	GM12878	blood:	n/a
48	chr1:56454285-56454335	AG09309	skin:	n/a
49	chr1:56424393-56424443	HEK293	kidney:	embryo
50	chr1:56463319-56463369	HMEC	breast:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:56453401..56456285-chr1:56458456..56460336,2	K562	blood:
2	chr1:56403818..56405745-chr1:56407271..56408987,2	K562	blood:
3	chr1:56453401..56456285-chr1:56458456..56460336,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PRKAA2-5	chr1:56427584-56427662	XLOC_000210
2	lnc-PPAP2B-5	chr1:56410589-56410636	ENSG00000230250.1
3	lnc-PRKAA2-5	chr1:56436568-56436730	XLOC_000210
4	lnc-PRKAA2-6	chr1:56410759-56410925	NONHSAT003429
5	lnc-PRKAA2-6	chr1:56415505-56415792	NONHSAT003429
6	lnc-PRKAA2-4	chr1:56483397-56483498	XLOC_000211
7	lnc-PRKAA2-6	chr1:56410760-56410925	XLOC_000209
8	lnc-PRKAA2-6	chr1:56415506-56415792	XLOC_000209
9	lnc-PRKAA2-4	chr1:56441023-56441144	XLOC_000211

Variant related genes	Relation type
ENSG00000230250	TF binding region
PIGQP1	TF binding region
ENSG00000233079	TF binding region
ENSG00000230250	CpG island
PIGQP1	CpG island
ENSG00000233079	CpG island
ENSG00000227104	chromatin interactions
EEA1	miRNA target sites
EDNRA	miRNA target sites

Extended variants
information (count: 2762 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:2762 , 50 per page) page: 1 2 3 4 5 6 7 ... 56

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11206690	chr1:56407227-56407228	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs536767601	chr1:56407228-56407229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11580270	chr1:56407238-56407239	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs370581486	chr1:56407262-56407263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs541002980	chr1:56407343-56407344	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs559415819	chr1:56407353-56407354	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs573561748	chr1:56407366-56407367	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs542572060	chr1:56407382-56407383	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs113334812	chr1:56407461-56407462	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs541986823	chr1:56407475-56407476	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs184376074	chr1:56407490-56407491	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs75850579	chr1:56407498-56407499	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs4338402	chr1:56407513-56407514	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs565464001	chr1:56407514-56407515	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs78852383	chr1:56407515-56407516	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs201829484	chr1:56407522-56407523	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs199998857	chr1:56407523-56407524	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs146428468	chr1:56407524-56407525	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs58130145	chr1:56407525-56407526	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs142923919	chr1:56407537-56407538	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs571109924	chr1:56407557-56407558	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs565862000	chr1:56407579-56407580	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs61777589	chr1:56407647-56407648	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs188812319	chr1:56407650-56407651	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs373625941	chr1:56407772-56407773	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs372100892	chr1:56407787-56407788	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs368300324	chr1:56407975-56407976	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs536801314	chr1:56407991-56407992	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs377102197	chr1:56408046-56408047	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs376560949	chr1:56408052-56408053	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs200181006	chr1:56408078-56408079	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs113487885	chr1:56408142-56408143	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs552914044	chr1:56408148-56408149	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs573615374	chr1:56408207-56408208	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs4262588	chr1:56408215-56408216	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs545732283	chr1:56408224-56408225	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs4323753	chr1:56408234-56408235	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs559266189	chr1:56408243-56408244	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs111664898	chr1:56408303-56408304	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs181360104	chr1:56408308-56408309	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs12070207	chr1:56408426-56408427	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs544783445	chr1:56408428-56408429	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs186433305	chr1:56408436-56408437	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs528810901	chr1:56408446-56408447	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs530187833	chr1:56408452-56408453	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs190916447	chr1:56408457-56408458	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs4345838	chr1:56408458-56408459	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs532341509	chr1:56408468-56408469	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs74421312	chr1:56408476-56408477	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs111843710	chr1:56408482-56408483	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Meckel-Gruber syndrome	21572526	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	16616336	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	19490664	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:399 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56402000-56416800	Weak transcription	Aorta	Aorta
2	chr1:56404600-56408600	Weak transcription	Fetal Lung	lung
3	chr1:56404600-56416200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:56404800-56409000	Weak transcription	Colon Smooth Muscle	Colon
5	chr1:56408600-56408800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:56408600-56408800	Enhancers	Fetal Lung	lung
7	chr1:56408800-56409200	Weak transcription	Fetal Lung	lung
8	chr1:56408800-56409600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:56409000-56409400	Enhancers	Colon Smooth Muscle	Colon
10	chr1:56409200-56409600	Enhancers	Fetal Lung	lung
11	chr1:56409600-56410000	Enhancers	Placenta	Placenta
12	chr1:56409600-56410000	Enhancers	Pancreas	Pancrea
13	chr1:56409600-56410600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:56410600-56418600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:56413000-56413800	Enhancers	Dnd41	blood
16	chr1:56413200-56413800	Enhancers	Hela-S3	cervix
17	chr1:56416200-56418200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:56416400-56417400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr1:56416400-56417600	Enhancers	NHDF-Ad	bronchial
20	chr1:56416800-56417200	Enhancers	Muscle Satellite Cultured Cells	--
21	chr1:56416800-56417200	Enhancers	Aorta	Aorta
22	chr1:56416800-56417400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:56417200-56418600	Weak transcription	Aorta	Aorta
24	chr1:56417200-56420600	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr1:56417400-56420400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:56417400-56420600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr1:56417600-56419400	Weak transcription	NHDF-Ad	bronchial
28	chr1:56418200-56419600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:56418600-56419400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:56419200-56419400	ZNF genes & repeats	Aorta	Aorta
31	chr1:56419400-56421400	Enhancers	NHDF-Ad	bronchial
32	chr1:56419400-56425200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr1:56419600-56421400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr1:56420400-56420600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr1:56420600-56421000	Enhancers	Fetal Lung	lung
36	chr1:56420600-56421200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr1:56420600-56421400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr1:56420600-56421400	Enhancers	Muscle Satellite Cultured Cells	--
39	chr1:56420800-56421000	Enhancers	Placenta	Placenta
40	chr1:56420800-56421000	Enhancers	Placenta Amnion	Placenta Amnion
41	chr1:56420800-56421400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr1:56420800-56421400	Enhancers	NHEK	skin
43	chr1:56420800-56421400	Enhancers	Osteobl	bone
44	chr1:56421000-56423200	Weak transcription	Fetal Lung	lung
45	chr1:56421000-56425000	Weak transcription	Placenta	Placenta
46	chr1:56421200-56421400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr1:56421200-56421400	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr1:56421200-56423000	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr1:56421400-56424000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr1:56421400-56426800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links